E47K (p.Glu47Lys) variant of PGR (Progesterone receptor)
E47K (p.Glu47Lys) in PGR (Progesterone receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- cosmic curated COSV54812
- ESP rs148270826
- ExAC rs148270826
- TOPMed rs148270826
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0751
- REVEL 0.02
- CADD 10.20
- PolyPhen-2 0.03
- SIFT 0.33
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available